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CARDIOMYOPATHY GENE PANEL DG 2.11 (45 genes) Gene

Median

ACTC1

164.4

ACTN2

159.6

ANKRD1

101.8

BAG3

136.9

CALR3 CAV3

137.4 305.2

CRYAB

125.9

CSRP3

103

CTNNA3

138.2

% covered % covered Associated Phenotype description and OMIM disease ID > 10x > 20x 100 99 Atrial septal defect 5, 612794 Cardiomyopathy, dilated, 1R, 613424 Cardiomyopathy, hypertrophic, 11, 612098 Left ventricular noncompaction 4, 613424 100 100 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 99 96 No OMIM phenotype Cardiomyopathy,hypertrophic (Arimura (2009) J Am Coll Cardiol 54,334) Cardiomyopathy,dilated (Duboscq-Bidot (2009) Eur Heart J 30,2128) ?Total anomalous pulmonary venous return (Cinquetti (2008) Hum Mutat 29,468) ?Neurodevelopmental disorder (Handrigan (2013) J Med Genet 50,163) 100 100 Cardiomyopathy, dilated, 1HH, 613881 Myopathy, myofibrillar, 6, 612954 100 99 ?Cardiomyopathy, hypertrophic, 19, 613875 100 100 Cardiomyopathy, familial hypertrophic, 192600 Creatine phosphokinase, elevated serum, 123320 Long QT syndrome 9, 611818 Muscular dystrophy, limb-girdle, type IC, 607801 Myopathy, distal, Tateyama type, 614321 Rippling muscle disease, 606072 99 98 Cardiomyopathy, dilated, 1II, 615184 Cataract 16, multiple types, 613763 Myopathy, myofibrillar, 2, 608810 Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 100 99 Cardiomyopathy, hypertrophic, 12, 612124 ?Cardiomyopathy, dilated, 1M, 607482 100 99 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616


DES

121

99

DSC2

128.3

99

DSG2

140.7

99

DSP

154.1

100

EMD FHL1

101.1 87.8

99 98

82

99

JPH2 JUP

87.6 145.3

90 100

LAMA4 LAMP2 LDB3

132.6 106.8 127.4

100 92 95

GLA

98 Cardiomyopathy, dilated, 1I, 604765 Myopathy, myofibrillar, 1, 601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 ?Muscular dystrophy, limb-girdle, type 2R, 615325 96 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 Arrhythmogenic right ventricular dysplasia 11, 610476 98 Arrhythmogenic right ventricular dysplasia 10, 610193 Cardiomyopathy, dilated, 1BB, 612877 99 Arrhythmogenic right ventricular dysplasia 8, 607450 Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 Epidermolysis bullosa, lethal acantholytic, 609638 Keratosis palmoplantaris striata II, 612908 Skin fragility-woolly hair syndrome, 607655 97 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 93 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 Hemophagocytic lymphohistiocytosis, familial, 1 Myopathy, X-linked, with postural muscle atrophy, 300696 Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Scapuloperoneal myopathy, X-linked dominant, 300695 97 Fabry disease, 301500 Fabry disease, cardiac variant, 301500 75 Cardiomyopathy, hypertrophic, 17, 613873 99 Arrhythmogenic right ventricular dysplasia 12, 611528 Naxos disease, 601214 99 Cardiomyopathy, dilated, 1JJ, 615235 91 Danon disease, 300257 93 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 Cardiomyopathy, hypertrophic, 24, 601493 Left ventricular noncompaction 3, 601493 Myopathy, myofibrillar, 4, 609452


LMNA

89.4

98

MIB1 MYBPC3

141.7 142.8

100 98

MYH6

113.5

99

MYH7

111.5

99

MYL2 MYL3 MYOZ2 MYPN

134.9 103.2 146 142.6

98 100 100 99

78

92

NEXN

91 Cardiomyopathy, dilated, 1A, 115200 Charcot-Marie-Tooth disease, type 2B1, 605588 Emery-Dreifuss muscular dystrophy 2, AD, 181350 Emery-Dreifuss muscular dystrophy 3, AR, 616516 Heart-hand syndrome, Slovenian type, 610140 Hutchinson-Gilford progeria, 176670 Lipodystrophy, familial partial, 2, 151660 Malouf syndrome, 212112 Mandibuloacral dysplasia, 248370 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb-girdle, type 1B, 159001 Restrictive dermopathy, lethal, 275210 99 Left ventricular noncompaction 7, 615092 95 Cardiomyopathy, dilated, 1MM, 615396 Cardiomyopathy, hypertrophic, 4, 115197 Left ventricular noncompaction 10, 615396 96 Atrial septal defect 3, 614089 Cardiomyopathy, dilated, 1EE, 613252 Cardiomyopathy, hypertrophic, 14, 613251 {Sick sinus syndrome 3}, 614090 96 Cardiomyopathy, dilated, 1S, 613426 Cardiomyopathy, hypertrophic, 1, 192600 Left ventricular noncompaction 5, 613426 Liang distal myopathy, 160500 Myopathy, myosin storage, autosomal dominant, 608358 Myopathy, myosin storage, autosomal recessive, 255160 Scapuloperoneal syndrome, myopathic type, 181430 90 Cardiomyopathy, hypertrophic, 10, 608758 100 Cardiomyopathy, hypertrophic, 8, 608751 100 Cardiomyopathy, hypertrophic, 16, 613838 98 Cardiomyopathy, dilated, 1KK, 615248 Cardiomyopathy, familial restrictive, 4, 615248 Cardiomyopathy, hypertrophic, 22, 615248 78 Cardiomyopathy, dilated, 1CC, 613122 Cardiomyopathy, hypertrophic, 20, 613876


PKP2 PLN

99.7 209.3

94 100

PRKAG2

125.8

98

RBM20 SCN5A

181.2 171.4

99 100

TAZ TCAP

94.9 89.3

99 100

TMEM43

125

100

TNNC1

175.2

100

TNNI3

86.8

98

TNNT2

105.8

100

TPM1

137.4

99

87 Arrhythmogenic right ventricular dysplasia 9, 609040 100 Cardiomyopathy, dilated, 1P, 609909 Cardiomyopathy, hypertrophic, 18, 613874 91 Cardiomyopathy, hypertrophic 6, 600858 Glycogen storage disease of heart, lethal congenital, 261740 Wolff-Parkinson-White syndrome, 194200 96 Cardiomyopathy, dilated, 1DD, 613172 100 Atrial fibrillation, familial, 10, 614022 Brugada syndrome 1, 601144 Cardiomyopathy, dilated, 1E, 601154 Heart block, nonprogressive, 113900 Heart block, progressive, type IA, 113900 Long QT syndrome-3, 603830 Sick sinus syndrome 1, 608567 Ventricular fibrillation, familial, 1, 603829 {Sudden infant death syndrome, susceptibility to}, 272120 98 Barth syndrome, 302060 99 Cardiomyopathy, hypertrophic, 25, 607487 Muscular dystrophy, limb-girdle, type 2G, 601954 99 Arrhythmogenic right ventricular dysplasia 5, 604400 Emery-Dreifuss muscular dystrophy 7, AD, 614302 100 Cardiomyopathy, dilated, 1Z, 611879 Cardiomyopathy, hypertrophic, 13, 613243 86 Cardiomyopathy, dilated, 1FF, 613286 Cardiomyopathy, familial restrictive, 1, 115210 Cardiomyopathy, hypertrophic, 7, 613690 ?Cardiomyopathy, dilated, 2A, 611880 99 Cardiomyopathy, dilated, 1D, 601494 Cardiomyopathy, familial restrictive, 3, 612422 Cardiomyopathy, hypertrophic, 2, 115195 Left ventricular noncompaction 6, 601494 97 Cardiomyopathy, dilated, 1Y, 611878 Cardiomyopathy, hypertrophic, 3, 115196 Left ventricular noncompaction 9, 611878


TTR

159.7

100

VCL

115.8

100

100 Amyloidosis, hereditary, transthyretin-related, 105210 Carpal tunnel syndrome, familial, 115430 [Dystransthyretinemic hyperthyroxinemia], 145680 99 Cardiomyopathy, dilated, 1W, 611407 Cardiomyopathy, hypertrophic, 15, 613255

Gene symbols used follow HGCN guidelines: Gray KA, Yates B, Seal RL, Wright MW, Bruford EA. Nucleic Acids Res. 2015 Jan;43(Database issue):D1079-85. Median Coverage describes the average number of reads seen across 50 exomes. % Covered 10x describes the percentage of a gene’s coding sequence that is covered at least 10x. % Covered 20x describes the percentage of a gene’s coding sequence that is covered at least 20x. Genes with Median Coverage and % Covered 10x/20x denoting NC are non-coding genes for which coverage statistics could not be generated. OMIM release used for OMIM disease identifiers and descriptions : April 14th, 2017. This list is accurate for panel version DG 2.11 Ad 1. “No OMIM phenotype” signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors

Cardiomyopathy dg211  
Cardiomyopathy dg211